MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Disease Browser
Parent Node:
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Cardiomyopathies (D009202)
Parent Node:
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Mitochondrial Diseases (D028361)
Parent Node:
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Ophthalmoplegia, Chronic Progressive External (D017246)
Parent Node:
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Retinitis Pigmentosa (D012174)
..Starting node
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Kearns-Sayre Syndrome (D007625)

       Child Nodes:
........expandMitochondrial cytopathy (C540770)



 Sister Nodes: 
..expandAldred syndrome (C537046)
..expandAlstrom Syndrome (D056769)
..expandAmaurosis hypertrichosis (C536604)
..expandBork Stender Schmidt syndrome (C536576)
..expandChang Davidson Carlson syndrome (C538075)
..expandChromosome Xp11.3 Deletion Syndrome (C564481)
..expandCone Dystrophy 3 (C566579)
..expandCone Dystrophy 4 (C567758)
..expandCone Dystrophy, X-Linked, 1 (C564439)
..expandCone dystrophy, x-linked, with tapetal-like sheen (C535975)
..expandCone rod dystrophy amelogenesis imperfecta (C535976)
..expandCone-Rod Dystrophy 1 (C563469)
..expandCone-Rod Dystrophy 10 (C564597)
..expandCone-Rod Dystrophy 11 (C563671)
..expandCone-Rod Dystrophy 12 (C567206)
..expandCone-Rod Dystrophy 13 (C567698)
..expandCONE-ROD DYSTROPHY 2 (OMIM:120970)
..expandCone-Rod Dystrophy 3 (C565827)
..expandCone-Rod Dystrophy 5 (C563415)
..expandCone-Rod Dystrophy 7 (C566350)
..expandCone-Rod Dystrophy 8 (C565322)
..expandCone-Rod Dystrophy, X-Linked, 2 (C564717)
..expandCone-Rod Dystrophy, X-Linked, 3 (C564507)
..expandCone-Rod Dystrophy, X-Linked, Type 1 (C564438)
..expandCutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness (C565306)
..expandDeafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities (C567467)
..expandFlynn Aird syndrome (C537066)
..expandFurukawa Takagi Nakao syndrome (C538193)
..expandHardikar syndrome (C535632)
..expandKearns-Sayre Syndrome (D007625) Child1  LSDB  L: 00143;
..expandLeber Congenital Amaurosis 14 (C567636)
..expandLeber Congenital Amaurosis 3 (C565814)
..expandLight Fixation Seizure Syndrome (C566367)
..expandMainzer-Saldino Disease (C535463)
..expandMental Retardation, Severe, With Spasticity And Pigmentary Tapetoretinal Degeneration (C566429)
..expandMetaphyseal Chondrodysplasia with Retinitis Pigmentosa (C565398)
..expandMicrocephaly, Retinitis Pigmentosa, and Sutural Cataract (C563296)
..expandMICROPHTHALMIA, ISOLATED 5 (OMIM:611040)
..expandMicrophthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen (C567024)
..expandMirhosseini-Holmes-Walton syndrome (C538367)
..expandMuscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus (C562774)
..expandNeuropathy ataxia and retinis pigmentosa (C537396)
..expandNewfoundland Rod-Cone Dystrophy (C564391)
..expandOculotrichodysplasia (C564934)
..expandOliver-McFarlane syndrome (C536554)
..expandPallidal Degeneration, Progressive, with Retinitis Pigmentosa (C564910)
..expandPeripheral Cone Dystrophy (C563813)
..expandPolyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract (C567203)
..expandPosterior column ataxia with retinitis pigmentosa (C536343)
..expandRadioulnar synostosis retinal pigment abnormalities (C536270)
..expandRetinal cone dystrophy 2 (C538363)
..expandRetinal Cone Dystrophy 3A (C566483)
..expandRetinal Cone Dystrophy 3B (C563678)
..expandRetinal Cone Dystrophy 4 (C566470)
..expandRetinitis pigmentosa 1 (C538365)
..expandRetinitis Pigmentosa 10 (C566715)
..expandRetinitis Pigmentosa 11 (C563991)
..expandRetinitis Pigmentosa 12 (C563999)
..expandRetinitis Pigmentosa 13 (C564008)
..expandRetinitis Pigmentosa 14 (C563992)
..expandRetinitis Pigmentosa 17 (C563437)
..expandRetinitis Pigmentosa 18 (C563320)
..expandRetinitis Pigmentosa 19 (C566637)
..expandRetinitis Pigmentosa 2 (C567523)
..expandRetinitis Pigmentosa 20 (C566718)
..expandRetinitis Pigmentosa 25 (C566425)
..expandRetinitis Pigmentosa 26 (C564249)
..expandRetinitis Pigmentosa 27 (C563526)
..expandRetinitis Pigmentosa 29 (C567403)
..expandRetinitis Pigmentosa 3 (C564520)
..expandRetinitis Pigmentosa 30 (C564310)
..expandRetinitis Pigmentosa 31 (C563685)
..expandRetinitis Pigmentosa 32 (C563689)
..expandRetinitis Pigmentosa 33 (C563676)
..expandRetinitis Pigmentosa 34 (C564475)
..expandRetinitis Pigmentosa 35 (C565206)
..expandRetinitis Pigmentosa 36 (C566431)
..expandRetinitis Pigmentosa 37 (C567005)
..expandRetinitis Pigmentosa 4 (C566706)
..expandRetinitis Pigmentosa 41 (C567422)
..expandRetinitis Pigmentosa 42 (C567854)
..expandRetinitis Pigmentosa 46 (C567249)
..expandRETINITIS PIGMENTOSA 50 (OMIM:613194)
..expandRETINITIS PIGMENTOSA 51 (OMIM:613464)
..expandRETINITIS PIGMENTOSA 54 (OMIM:613428)
..expandRETINITIS PIGMENTOSA 55 (OMIM:613575)
..expandRETINITIS PIGMENTOSA 56 (OMIM:613581)
..expandRETINITIS PIGMENTOSA 57 (OMIM:613582)
..expandRETINITIS PIGMENTOSA 58 (OMIM:613617)
..expandRetinitis Pigmentosa 6 (C564065)
..expandRetinitis Pigmentosa 7 (C564284)
..expandRetinitis Pigmentosa 7 With Bull'S-Eye Maculopathy (C567264)
..expandRetinitis Pigmentosa 7, Digenic (C567263)
..expandRetinitis Pigmentosa 9 (C566716)
..expandRetinitis Pigmentosa Inversa with Deafness (C564842)
..expandRetinitis Pigmentosa with Paraarteriolar Preservation Of Retinal Pigment Epithelium (C564000)
..expandRetinitis Pigmentosa, Concentric (C567712)
..expandRetinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism (C564841)
..expandRetinitis Pigmentosa, Late-Adult Onset (C564840)
..expandRetinitis Pigmentosa, Late-Onset Dominant (C567369)
..expandRetinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness (C567595)
..expandRetinitis Pigmentosa, Y-Linked (C564035)
..expandRetinopathy, Pericentral Pigmentary, Autosomal Recessive (C564838)
..expandRhizomelic dysplasia, scoliosis, and retinitis pigmentosa (C537610)
..expandRHYNS syndrome (C537612)
..expandRod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction (C564829)
..expandSenior-Loken syndrome 4 (C537581)
..expandSkeletal Dysplasia, Rhizomelic, with Retinitis Pigmentosa (C563806)
..expandSpastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation (C564808)
..expandSpondylometaphyseal Dysplasia with Cone-Rod Dystrophy (C563825)
..expandTapetoretinal Degeneration with Ataxia (C564788)
..expandUsher Syndromes (D052245) Child19  LSDB  L: 00160;
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:6035
Name:Kearns-Sayre Syndrome
Definition:A mitochondrial disorder featuring the triad of chronic progressive EXTERNAL OPHTHALMOPLEGIA, cardiomyopathy (CARDIOMYOPATHIES) with conduction block (HEART BLOCK), and RETINITIS PIGMENTOSA. Disease onset is in the first or second decade. Elevated CSF protein, sensorineural deafness, seizures, and pyramidal signs may also be present. Ragged-red fibers are found on muscle biopsy. (Adams et al., Principles of Neurology, 6th ed, p984)
Alternative IDs:OMIM:530000
ParentIDs:MESH:D009202|MESH:D012174|MESH:D017246|MESH:D028361
TreeNumbers:C05.651.460.700.500 |C10.292.562.775.500 |C10.668.491.500.700.500 |C11.590.641.500 |C11.768.585.658.500.627 |C14.280.238.510 |C18.452.660.410 |C18.452.660.560.700.500
Synonyms:Chronic Progressive External Ophthalmoplegia with Myopathy |CPEO with Myopathies |CPEO with Myopathy |Cpeo With Ragged-Red Fibers |CPEO with Ragged Red Fibers |Cytopathy, Kearn-Sayre Mitochondrial |Kearn Sayre Mitochondrial Cytopathy |Kearn-Sayre Mitochondrial
Slim Mappings:Cardiovascular disease|Eye disease|Metabolic disease|Musculoskeletal disease|Nervous system disease
Reference: MedGen: D007625
MeSH: D007625
OMIM: 530000;
MSeqDR LSDB: 00143;  
Genes:
Phenotypes
1 HP:0001427Mitochondrial inheritance
2 HP:0007703Abnormality of retinal pigmentationhallmark
3 HP:0000830Anterior hypopituitarismtypical
4 HP:0011675Arrhythmia
NAMDC:  Cardiac conduction block
hallmark
5 HP:0001251Ataxia
6 HP:0002135Basal ganglia calcification
7 HP:0001638Cardiomyopathy
8 HP:0002750Delayed skeletal maturationoccasional
9 HP:0000726Dementia
NAMDC:  Dementia
10 HP:0000819Diabetes mellitus
NAMDC:  Diabetes mellitus
11 HP:0003457EMG abnormalitytypical
12 HP:0000365Hearing impairmenttypical
13 HP:0004374Hemiplegia/hemiparesisoccasional
14 HP:0000829Hypoparathyroidism
15 HP:0002311Incoordinationtypical
16 HP:0002922Increased CSF protein
17 HP:0003128Lactic acidosis
18 HP:0000252Microcephaly
19 HP:0001324Muscle weakness
NAMDC:  Muscle weakness: diffuse
20 HP:0001252Muscular hypotonia
NAMDC:  Hypotonia
typical
21 HP:0000597Ophthalmoparesis
NAMDC:  Ophthalmoparesis
hallmark
22 HP:0000580Pigmentary retinopathy
NAMDC:  Pigmentary retinopathy
23 HP:0008207Primary adrenal insufficiency
24 HP:0000590Progressive external ophthalmoplegia
25 HP:0000508Ptosis
NAMDC:  Ptosis
26 HP:0003200Ragged-red muscle fibers
27 HP:0001315Reduced tendon reflexestypical
28 HP:0001994Renal Fanconi syndrome
29 HP:0001947Renal tubular acidosis
NAMDC:  Renal tubular acidosis
30 HP:0001250Seizures
NAMDC:  Seizures
31 HP:0000407Sensorineural hearing impairment
NAMDC:  Sensorineural hearing loss
32 HP:0000763Sensory neuropathy
33 HP:0004322Short stature
NAMDC:  Short stature (patient¡¯s height is below the 3rd percentile)
typical
34 HP:0004322Short stature
NAMDC:  Short stature (patient¡¯s height is below the 3rd percentile)
35 HP:0001924Sideroblastic anemia
NAMDC:  Sideroblastic anemia
36 HP:0003202Skeletal muscle atrophytypical
37 HP:0001709Third degree atrioventricular block
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
m.3249G>A4567MT-TL1Pathogenic199474667RCV000010222; NMedGen:C0022541,OMIM:530000,ORPHA:480M32493249--NC_012920.1:m.3249G>AOMIM Allelic Variant:590050.0011C0022541 530000 Kearns Sayre syndrome
m.5877C>T4579MT-TYPathogenic118203893RCV000010161; NMedGen:C0022541,OMIM:530000,ORPHA:480M58775877--NC_012920.1:m.5877C>TOMIM Allelic Variant:590100.0003C0022541 530000 Kearns Sayre syndrome
m.5888delT4579MT-TYPathogenic118203892RCV000010160; NMedGen:C0022541,OMIM:530000,ORPHA:480M58885888--NC_012920.1:m.5888delTOMIM Allelic Variant:590100.0002C0022541 530000 Kearns Sayre syndrome
MSeqDR Portal
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsDescriptionDisease id
ENSG00000209082 MSeqDR Search EnsemblMT-TL1111mitochondrially encoded tRNA leucine 1 (UUA/G) [Source:HGNC Symbol;Acc:7490]00143

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